Abstract
We examined, cytogenetically and by in situ hybridization (ISH) techniques, the synovia, osteophytes, and articular cartilage from 32 patients with pronounced osteoarthritis (OA), a prevalent form of arthropathy characterized by progressive reduction of articular cartilage, and synovial samples from 17 control patients. In short-term cultures, clonal chromosome aberrations, in particular the gain of chromosomes 7 (+7) and 5 (+5), were found to be strongly associated with OA. These aberrations were found in almost 90% of the cultures from synovia and osteophytes, whereas only 1/11 synovial samples from joints unequivocally unaffected by OA had cells with +5 or +7. The in vivo nature of trisomy 7 was demonstrated by ISH on uncultured cells, and serial passaging showed that cells with +7 had a proliferative advantage in vitro. Thus, the combined data indicate that cells with somatic mutations appear early and may be influential in the disease process leading to OA.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 7 June 1996 / Revised: 9 August 1996
Rights and permissions
About this article
Cite this article
Mertens, F., Pålsson, E., Lindstrand, A. et al. Evidence of somatic mutations in osteoarthritis. Hum Genet 98, 651–656 (1996). https://doi.org/10.1007/s004390050278
Issue Date:
DOI: https://doi.org/10.1007/s004390050278